Literature DB >> 12442674

Hereditary tauopathies and parkinsonism.

Zbigniew K Wszolek1, Yoshio Tsuboi, Mathew Farrer, Ryan J Uitti, Mike L Hutton.   

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Year:  2003        PMID: 12442674

Source DB:  PubMed          Journal:  Adv Neurol        ISSN: 0091-3952


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  10 in total

1.  Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration.

Authors:  Naomi Kouri; Yari Carlomagno; Matthew Baker; Amanda M Liesinger; Richard J Caselli; Zbigniew K Wszolek; Leonard Petrucelli; Bradley F Boeve; Joseph E Parisi; Keith A Josephs; Ryan J Uitti; Owen A Ross; Neill R Graff-Radford; Michael A DeTure; Dennis W Dickson; Rosa Rademakers
Journal:  Acta Neuropathol       Date:  2014-02       Impact factor: 17.088

2.  Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.

Authors:  Emilia M Gatto; Ricardo F Allegri; Gustavo Da Prat; Patricio Chrem Mendez; David S Hanna; Michael O Dorschner; Ezequiel I Surace; Cyrus P Zabetian; Ignacio F Mata
Journal:  Neurobiol Aging       Date:  2017-02-10       Impact factor: 4.673

3.  Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation.

Authors:  Y Baba; M C Baker; I Le Ber; A Brice; L Maeck; J Kohlhase; M Yasuda; G Stoppe; O Bugiani; A D Sperfeld; Y Tsuboi; R J Uitti; M J Farrer; B Ghetti; M L Hutton; Z K Wszolek
Journal:  J Neural Transm (Vienna)       Date:  2007-02-23       Impact factor: 3.575

4.  Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis.

Authors:  Ashley Cannon; Shinsuke Fujioka; Nicola J Rutherford; Tanis J Ferman; Daniel F Broderick; Kevin B Boylan; Neill R Graff-Radford; Ryan J Uitti; Rosa Rademakers; Zbigniew K Wszolek; Dennis W Dickson
Journal:  Neurology       Date:  2013-04-17       Impact factor: 9.910

5.  Pallidonigral TDP-43 pathology in Perry syndrome.

Authors:  Christian Wider; Dennis W Dickson; A Jon Stoessl; Yoshio Tsuboi; Françoise Chapon; Ludwig Gutmann; Bernard Lechevalier; Donald B Calne; David A Personett; Mary Hulihan; Jennifer Kachergus; Rosa Rademakers; Matthew C Baker; Linda L Grantier; O K Sujith; Laura Brown; Susan Calne; Matthew J Farrer; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2008-08-23       Impact factor: 4.891

6.  Presence of reactive microglia and neuroinflammatory mediators in a case of frontotemporal dementia with P301S mutation.

Authors:  Arianna Bellucci; Orso Bugiani; Bernardino Ghetti; Maria Grazia Spillantini
Journal:  Neurodegener Dis       Date:  2011-01-05       Impact factor: 2.977

7.  Japanese Familial Cases of Frontotemporal Dementia and Parkinsonism with N279K Tau Gene Mutation.

Authors:  Yuwa Oka; Hidemoto Saiki; Yasumasa Hashimoto; Yuta Terada; Takashi Nakamura; Takashi Ayaki; Satoshi Orimo; Sadayuki Matsumoto
Journal:  Mov Disord Clin Pract       Date:  2020-11-03

8.  Evidence for a Common Founder and Clinical Characteristics of Japanese Families with the MAPT R406W Mutation.

Authors:  Takeshi Ikeuchi; Toru Imamura; Yasuhiro Kawase; Yoshimi Kitade; Miyuki Tsuchiya; Takayoshi Tokutake; Kensaku Kasuga; Ryuji Yajima; Tamao Tsukie; Akinori Miyashita; Morihiro Sugishita; Ryozo Kuwano; Masatoyo Nishizawa
Journal:  Dement Geriatr Cogn Dis Extra       Date:  2011-09-20

Review 9.  Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).

Authors:  Zbigniew K Wszolek; Yoshio Tsuboi; Bernardino Ghetti; Stuart Pickering-Brown; Yasuhiko Baba; William P Cheshire
Journal:  Orphanet J Rare Dis       Date:  2006-08-09       Impact factor: 4.123

Review 10.  Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging.

Authors:  B Ghetti; A L Oblak; B F Boeve; K A Johnson; B C Dickerson; M Goedert
Journal:  Neuropathol Appl Neurobiol       Date:  2015-02       Impact factor: 8.090

  10 in total

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